Aminoglycosides are the first-choice antibiotic for empirical treatment of sepsis in neonates. The mitochondrial m.1555A>G genetic variant, with a prevalence of 1 in 500, predisposes to ototoxicity after aminoglycoside administration. This relationship is particularly profound in early childhood, with a single dose causing irreversible, profound sensorineural hearing loss. Current genetic testing can take days, an unacceptable delay in the acute setting. We aimed to develop and implement a point of care test (POCT) to detect the variant in a clinically relevant timeframe (<1 hour), facilitating rapid tailored antibiotic prescribing.
This talk will describe how we have introduced genetic testing by nurses in neonates to avoid hearing loss – the challenges and benefits and the next steps in getting this adopted nationally.
Key Learning Objectives:
– Understanding antibiotic associated hearing loss
– Use of point of care genetic testing to avoid this
– How implementation studies work in the acute setting.
Take home message:
– Genetic testing can be done quickly by neonatal nurses to prevent antibiotic hearing loss in newborn babies
Bill is a Consultant Clinical Geneticist at the Manchester Centre for Genomic Medicine and Professor of Translational Genomic Medicine at the University of Manchester. His research has focused on pharmacogenetics – defining the genetic factors that influence how patients respond to their medications. He is the chief investigator on the PALOH study to implement a point of care test to avoid hearing loss in neonates.
He has an interest in rare diseases and has discovered a number of genes responsible for inherited conditions associated with hearing loss including Perrault syndrome and Heimler syndrome